Submissions for variant NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg)

dbSNP: rs111588143

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000857912	SCV000234828	uncertain significance	not provided	2025-03-05	criteria provided, single submitter	clinical testing	Identified in a patient with TAAD in published literature who also harbored a variant in the COL3A1 gene (PMID: 34498425); In silico analysis indicates that this missense variant does not alter protein structure/function; Reported using an alternate transcript of the gene; This variant is associated with the following publications: (PMID: 34498425)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000462499	SCV000556085	likely benign	Aortic aneurysm, familial thoracic 4	2025-01-30	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000462499	SCV000745468	likely benign	Aortic aneurysm, familial thoracic 4	2016-10-19	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000778049	SCV000914164	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-09-06	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000778049	SCV001333411	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-11-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV005237667	SCV005887830	likely benign	not specified	2025-01-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000462499	SCV000745951	likely benign	Aortic aneurysm, familial thoracic 4	2015-01-28	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000857912	SCV001930274	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004751350	SCV005351763	likely benign	MYH11-related disorder	2024-03-06	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).